Nationally consistent genomic terminology

Clear and consistent terminology is key to communicating and understanding genomic information – for researchers, diagnostic laboratories, health professionals and patients.

Current inconsistencies in genomic terminology in research and clinical settings can increase the risk of misinterpreting genomic data, hinder genomic information sharing between services, hamper the secondary use of genomic research data nationally and internationally and affect patients’ experiences and outcomes.

This project aims to develop standardised, nationally consistent genomic terminology in Australian research and clinical settings. The resulting terminology guidelines will support efficient, effective and consistent communication of genomic information, and develop the genomic literacy of the broader health workforce and community.